Canonical Allele Identifier: CA8595346

Gene: NAGS PYY

Linked Data

• ClinVar Variation Id: 1137765
• ClinVar RCV Id: RCV001473892
• dbSNP Id: rs754959332
• ExAC: 17:42084836 G / A
• gnomAD v2: 17-42084836-G-A
• gnomAD v3: 17-44007468-G-A
• gnomAD v4: 17-44007468-G-A
• MyVariant Identifiers: chr17:g.42084836G>A (hg19) ; chr17:g.44007468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44007468G>A , CM000679.2:g.44007468G>A	GRCh38
NC_000017.10:g.42084836G>A , CM000679.1:g.42084836G>A	GRCh37
NC_000017.9:g.39440362G>A	NCBI36
NG_008106.1:g.7805G>A
NG_023338.1:g.2002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000293404.8:c.1242G>A (NAGS) MANE Select	ENSP00000293404.2:p.Arg414=
ENST00000293404.7:c.1242G>A (NAGS)	ENSP00000293404.2:p.Arg414=
ENST00000589767.1:c.1149G>A (NAGS)	ENSP00000465408.1:p.Arg383=
ENST00000592915.1:n.1130G>A (NAGS)
NM_153006.2:c.1242G>A (NAGS)	NP_694551.1:p.Arg414=
XM_011524438.1:c.1242G>A (NAGS)	XP_011522740.1:p.Arg414=
XM_011524439.1:c.744G>A (NAGS)	XP_011522741.1:p.Arg248=
XM_011525035.1:c.-463+16104C>T (PYY)	XP_011523337.1:n.-463+16104C>T
XM_011524439.2:c.744G>A (NAGS)	XP_011522741.1:p.Arg248=
NM_153006.3:c.1242G>A (NAGS) MANE Select	NP_694551.1:p.Arg414=